Haemophilia B
Haemophilia B
Haemophilia B (pronounced: hee-muh-FIL-ee-uh B), also known as Christmas disease, is a rare genetic disorder distinguished by the inability to form blood clots properly. This condition is caused by a deficiency of a clotting protein known as Factor IX.
Etymology
The term "Haemophilia B" is derived from the Greek words "haima" (blood) and "philia" (love), indicating an abnormal attraction of the blood to bleeding. The condition was named "Christmas disease" after Stephen Christmas, the first patient diagnosed with this specific form of haemophilia.
Symptoms
The primary symptom of Haemophilia B is excessive bleeding, which can occur spontaneously or following an injury or surgery. Other symptoms may include bruising, joint pain, and swelling.
Causes
Haemophilia B is caused by a mutation in the F9 gene, which provides instructions for producing Factor IX. This mutation is inherited in an X-linked recessive pattern, meaning it predominantly affects males.
Diagnosis
Diagnosis of Haemophilia B typically involves blood tests to measure the level of clotting factors. Genetic testing may also be used to identify the F9 gene mutation.
Treatment
Treatment for Haemophilia B primarily involves replacing the missing Factor IX through intravenous infusions. Other treatments may include antifibrinolytic drugs and physical therapy.
Related Terms
- Haemophilia A: A similar condition caused by a deficiency of Factor VIII.
- Factor IX: The clotting protein that is deficient in individuals with Haemophilia B.
- X-linked recessive: A pattern of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be expressed in males.
See Also
External links
- Medical encyclopedia article on Haemophilia B
- Wikipedia's article - Haemophilia B
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